Drug Target Ontology

Last uploaded: February 15, 2018
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Preferred Name

Pfeiffer syndrome
Synonyms
Definitions

An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_14705
comment

OMIM mapping confirmed by DO. [SN].
definition

An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
hasDbXref

MESH:D000168

OMIM:101600

SNOMEDCT_US_2016_03_01:70410008

UMLS_CUI:C0220658

NCI:C99100
hasExactSynonym

acrocephalosyndactylia type V
hasOBONamespace

disease_ontology
id

DOID:14705
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Pfeiffer syndrome
prefixIRI

DOID:14705
prefLabel

Pfeiffer syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_12960
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14705 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14705 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14705 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14705 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14705 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14705 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_14705 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007043 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/101600 OMIM LOOM
http://identifiers.org/omim/101600 REXO LOOM
http://identifiers.org/omim/101600 GEXO LOOM
http://identifiers.org/omim/101600 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265303 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C02 SNMI LOOM
http://www.limics.org/hrdo/rdfns#pat_id_234 HRDO LOOM
rgo:22956 GAMUTS LOOM
http://id.nlm.nih.gov/mesh/D000168 MDM LOOM
http://purl.obolibrary.org/obo/DOID_14705 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14705 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14705 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14705 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14705 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_710 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200976 NANDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25882 OCHV LOOM
http://purl.obolibrary.org/obo/OMIM_101600 CCO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10082289 MEDDRA LOOM
http://nanbyodata.jp/ontology/NANDO_1200668 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14705 NATPRO LOOM